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Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

Standard

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. / Heidet, L; Cohen-Solal, L; Boye, E; Thorner, P; Kemper, Markus J.; David, A; Larget Piet, L; Zhou, J; Flinter, F; Zhang, X; Gubler, M C; Antignac, C.

in: Cytogenet Cell Genet, Jahrgang 78, Nr. 3-4, 3-4, 1997, S. 240-246.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Heidet, L, Cohen-Solal, L, Boye, E, Thorner, P, Kemper, MJ, David, A, Larget Piet, L, Zhou, J, Flinter, F, Zhang, X, Gubler, MC & Antignac, C 1997, 'Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.', Cytogenet Cell Genet, Jg. 78, Nr. 3-4, 3-4, S. 240-246. <http://www.ncbi.nlm.nih.gov/pubmed/9465897?dopt=Citation>

APA

Heidet, L., Cohen-Solal, L., Boye, E., Thorner, P., Kemper, M. J., David, A., Larget Piet, L., Zhou, J., Flinter, F., Zhang, X., Gubler, M. C., & Antignac, C. (1997). Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cytogenet Cell Genet, 78(3-4), 240-246. [3-4]. http://www.ncbi.nlm.nih.gov/pubmed/9465897?dopt=Citation

Vancouver

Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A et al. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cytogenet Cell Genet. 1997;78(3-4):240-246. 3-4.

Bibtex

@article{8bb68cec7d614fb8a30a25b6db55feaf,
title = "Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.",
abstract = "Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.",
keywords = "Adult, Humans, Male, Female, Cloning, Molecular, DNA Primers, *Gene Deletion, Restriction Mapping, Exons, Chromosomes, Artificial, Yeast, Collagen/*genetics, Leiomyomatosis/*genetics, Nephritis, Hereditary/*genetics, Adult, Humans, Male, Female, Cloning, Molecular, DNA Primers, *Gene Deletion, Restriction Mapping, Exons, Chromosomes, Artificial, Yeast, Collagen/*genetics, Leiomyomatosis/*genetics, Nephritis, Hereditary/*genetics",
author = "L Heidet and L Cohen-Solal and E Boye and P Thorner and Kemper, {Markus J.} and A David and {Larget Piet}, L and J Zhou and F Flinter and X Zhang and Gubler, {M C} and C Antignac",
year = "1997",
language = "English",
volume = "78",
pages = "240--246",
journal = "Cytogenet Cell Genet",
issn = "0301-0171",
publisher = "S. Karger AG",
number = "3-4",

}

RIS

TY - JOUR

T1 - Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

AU - Heidet, L

AU - Cohen-Solal, L

AU - Boye, E

AU - Thorner, P

AU - Kemper, Markus J.

AU - David, A

AU - Larget Piet, L

AU - Zhou, J

AU - Flinter, F

AU - Zhang, X

AU - Gubler, M C

AU - Antignac, C

PY - 1997

Y1 - 1997

N2 - Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.

AB - Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Cloning, Molecular

KW - DNA Primers

KW - Gene Deletion

KW - Restriction Mapping

KW - Exons

KW - Chromosomes, Artificial, Yeast

KW - Collagen/genetics

KW - Leiomyomatosis/genetics

KW - Nephritis, Hereditary/genetics

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Cloning, Molecular

KW - DNA Primers

KW - Gene Deletion

KW - Restriction Mapping

KW - Exons

KW - Chromosomes, Artificial, Yeast

KW - Collagen/genetics

KW - Leiomyomatosis/genetics

KW - Nephritis, Hereditary/genetics

M3 - SCORING: Journal article

VL - 78

SP - 240

EP - 246

JO - Cytogenet Cell Genet

JF - Cytogenet Cell Genet

SN - 0301-0171

IS - 3-4

M1 - 3-4

ER -